Canonical Allele Identifier: CA514188721
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 457902
ClinVar RCV Id: RCV000532349

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678240C>T , CM000684.2:g.29678240C>T GRCh38
NC_000022.10:g.30074229C>T , CM000684.1:g.30074229C>T GRCh37
NC_000022.9:g.28404229C>T NCBI36
NG_009057.1:g.79685C>T , LRG_511:g.79685C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.1491C>T MANE Select ENSP00000344666.5:p.Ser497=
ENST00000361166.9:n.909C>T ENSP00000354529.5:p.Ser303=
ENST00000672461.1:c.1491C>T ENSP00000500919.1:p.Ser497=
ENST00000672805.1:c.*1373C>T ENSP00000500295.1:p.=
ENST00000672896.1:c.1491C>T ENSP00000500117.1:p.Ser497=
ENST00000673312.1:n.1510C>T ENSP00000500186.1:p.=
ENST00000334961.11:c.1242C>T ENSP00000335652.7:p.Ser414=
ENST00000338641.8:c.1491C>T ENSP00000344666.4:p.Ser497=
ENST00000353887.8:c.1242C>T ENSP00000340626.4:p.Ser414=
ENST00000361166.8:n.1491C>T ENSP00000354529.4:p.Ser497=
ENST00000361452.8:c.1368C>T ENSP00000354897.4:p.Ser456=
ENST00000361676.8:n.1365C>T ENSP00000355183.4:p.Ser455=
ENST00000397789.3:n.1491C>T ENSP00000380891.3:p.Ser497=
ENST00000403435.5:c.1404C>T ENSP00000384029.1:p.Ser468=
ENST00000403999.7:c.1491C>T ENSP00000384797.3:p.Ser497=
ENST00000413209.6:c.448-16512C>T ENSP00000409921.2:p.=
ENST00000432151.5:c.*10C>T ENSP00000395885.1:p.=
NM_000268.3:c.1491C>T , LRG_511t1:c.1491C>T NP_000259.1:p.Ser497=
NM_016418.5:c.1491C>T , LRG_511t2:c.1491C>T NP_057502.2:p.Ser497=
NM_181825.2:c.1491C>T NP_861546.1:p.Ser497=
NM_181828.2:c.1365C>T NP_861966.1:p.Ser455=
NM_181829.2:c.1368C>T NP_861967.1:p.Ser456=
NM_181830.2:c.1242C>T NP_861968.1:p.Ser414=
NM_181831.2:c.1242C>T NP_861969.1:p.Ser414=
NM_181832.2:c.1491C>T NP_861970.1:p.Ser497=
NM_181833.2:c.448-16512C>T NP_861971.1:p.=
NR_156186.1:n.2050C>T
XM_017028809.2:c.1377C>T XP_016884298.1:p.Ser459=
XM_017028810.1:c.1377C>T XP_016884299.1:p.Ser459=
NM_000268.4:c.1491C>T MANE Select NP_000259.1:p.Ser497=
NM_181825.3:c.1491C>T NP_861546.1:p.Ser497=
NM_181828.3:c.1365C>T NP_861966.1:p.Ser455=
NM_181829.3:c.1368C>T NP_861967.1:p.Ser456=
NM_181830.3:c.1242C>T NP_861968.1:p.Ser414=
NM_181831.3:c.1242C>T NP_861969.1:p.Ser414=
NM_181832.3:c.1491C>T NP_861970.1:p.Ser497=
NR_156186.2:n.1973C>T
NM_181833.3:c.448-16512C>T NP_861971.1:p.=